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Publications by Yael Shiloh-Malawsky

GCH1 Heterozygous Mutation Identified by Whole-Exome Sequencing as a Treatable Condition in a Patient Presenting With Progressive Spastic Paraplegia

Journal of Neurology

Neurology

2014

English

Related publications

A De Novo Heterozygous Frameshift Mutation Identified in BCL11B Causes Neurodevelopmental Disorder by Whole Exome Sequencing

Molecular genetics & genomic medicine

Genetics

Molecular Biology

2019

English

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

Frontiers in Genetics

Genetics

Molecular Medicine

2018

English

Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis

Molecular genetics & genomic medicine

Genetics

Molecular Biology

2020

English

Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia

Clinical Neurology and Neurosurgery

English

A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing

Andrology

Endocrinology

Reproductive Medicine

English

Whole-Exome Sequencing to Identify the Cause of Congenital Sensorineural Hearing Loss in Carriers of a Heterozygous GJB2 Mutation

European Archives of Oto-Rhino-Laryngology

Medicine

Otorhinolaryngology

2017

English

Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

English

Exome Sequencing Identified a Missense Mutation ofEPS8L3in Marie Unna Hereditary Hypotrichosis

Journal of Medical Genetics

Genetics

2012

English

Spastic Paraplegia With SPG11 Gene delE39 in a Turkish Patient

Gazi Medical Journal

Medicine

2016

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Yael Shiloh-Malawsky

GCH1 Heterozygous Mutation Identified by Whole-Exome Sequencing as a Treatable Condition in a Patient Presenting With Progressive Spastic Paraplegia

Related publications

A De Novo Heterozygous Frameshift Mutation Identified in BCL11B Causes Neurodevelopmental Disorder by Whole Exome Sequencing

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis

Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia

A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing

Whole-Exome Sequencing to Identify the Cause of Congenital Sensorineural Hearing Loss in Carriers of a Heterozygous GJB2 Mutation

Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma

Exome Sequencing Identified a Missense Mutation ofEPS8L3in Marie Unna Hereditary Hypotrichosis

Spastic Paraplegia With SPG11 Gene delE39 in a Turkish Patient